Phenotypes associated with the disease Dowling-Degos disease 4 (OMIM:615696):
- Hypergranulosis (HP:0025114): Hypergranulosis is an increased thickness of the stratum granulosum. Evidence: IEA. (OMIM:615696)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. (PMID:24387993)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: TAS. (OMIM:615696)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: PCS. (PMID:24387993)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: PCS. (PMID:24387993)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:24387993)